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    Case Report: Phenotypic heterogeneity within an NF1 family: assessment of the pathogenicity of a de novo c.6640dupA shift mutation and a splice variant with an epilepsy phenotype

    Case Report: Phenotypic heterogeneity within an NF1 family: assessment of the pathogenicity of a de novo c.6640dupA shift mutation and a splice variant with an epilepsy phenotype by Sijing Ren, Sijing Ren, Sijing Ren, Yanling Wang, Xinhua Tong, Xiaoyu Wu, Xiaoyu Wu, Huan Yan, Huan Yan, Qing-Xia Kong, Qing-Xia Kong, Qing-Xia Kong

    Published 2025-07-01
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